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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Alstrom Syndrome (D056769)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

485

Name:

Alstrom Syndrome

Definition:

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

Alternative IDs:

OMIM:203800

ParentIDs:

MESH:D000015|MESH:D012174|MESH:D015417

TreeNumbers:

C10.500.300.099 |C10.574.500.495.099 |C10.668.829.800.300.099 |C11.270.684.249 |C16.131.077.080 |C16.131.666.300.099 |C16.320.290.684.249 |C16.320.400.375.099

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D056769
MeSH: D056769
OMIM: 203800;

Genes: ALMS1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0001155	Abnormality of the hand
4	HP:0000956	Acanthosis nigricans
5	HP:0005616	Accelerated skeletal maturation
6	HP:0001596	Alopecia
7	HP:0002099	Asthma
8	HP:0002621	Atherosclerosis
9	HP:0000618	Blindness
10	HP:0200120	Chronic active hepatitis
11	HP:0000548	Cone/cone-rod dystrophy
12	HP:0001635	Congestive heart failure
13	HP:0001133	Constriction of peripheral visual field
14	HP:0003233	Decreased HDL cholesterol concentration
15	HP:0000824	Decreased response to growth hormone stimulation test
16	HP:0000873	Diabetes insipidus
17	HP:0001644	Dilated cardiomyopathy
18	HP:0002910	Elevated hepatic transaminase
19	HP:0000230	Gingivitis
20	HP:0001263	Global developmental delay
21	HP:0000771	Gynecomastia
22	HP:0001397	Hepatic steatosis
23	HP:0002240	Hepatomegaly
24	HP:0000815	Hypergonadotropic hypogonadism
25	HP:0000842	Hyperinsulinemia
26	HP:0004438	Hyperostosis frontalis interna
27	HP:0000822	Hypertension
28	HP:0002155	Hypertriglyceridemia
29	HP:0002149	Hyperuricemia
30	HP:0000821	Hypothyroidism
31	HP:0000831	Insulin-resistant diabetes mellitus
32	HP:0000858	Irregular menstruation
33	HP:0002808	Kyphosis
34	HP:0005987	Multinodular goiter
35	HP:0000123	Nephritis
36	HP:0000639	Nystagmus
37	HP:0000388	Otitis media
38	HP:0001763	Pes planus
39	HP:0000613	Photophobia
40	HP:0000580	Pigmentary retinopathy
41	HP:0000408	Progressive sensorineural hearing impairment
42	HP:0006532	Recurrent pneumonia
43	HP:0000083	Renal insufficiency
44	HP:0002650	Scoliosis
45	HP:0004322	Short stature
46	HP:0000523	Subcapsular cataract
47	HP:0001956	Truncal obesity
48	HP:0001970	Tubulointerstitial nephritis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_015120.4(ALMS1):c.66_77dupGGAGGAGGAGGA (p.Glu29_Ala30insGluGluGluGlu)	7840	ALMS1	Benign	55889738	RCV000206647;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73613059	73613070	NM_015120.4:c.66_77dupGGAGGAGGAGGA	NP_055935.4:p.Glu29_Ala30insGluGluGluGlu		-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.69_77delGGAGGAGGA (p.Glu27_Glu29del)	7840	ALMS1	Benign	864622738	RCV000204411;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73613062	73613070	NM_015120.4:c.69_77delGGAGGAGGA	NP_055935.4:p.Glu27_Glu29del	NC_000002.11:g.73613062_73613070delGGAGGAGGA	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del)	7840	ALMS1	Benign;Likely benign	61156725	RCV000205518; RCV000173444;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN169374	2	73613065	73613070	NM_015120.4:c.72_77delGGAGGA	NP_055935.4:p.Glu28_Glu29del	NC_000002.11:g.73613062_73613067delGGAGGA,NC_000002.11:g.73613065_73613070delGGA	-	C0268425 203800 Alstrom syndrome; CN169374 not specified
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu)	7840	ALMS1	Benign	55889738	RCV000206622; RCV000173445;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN169374	2	73613065	73613070	NM_015120.4:c.72_77dupGGAGGA	NP_055935.4:p.Glu29_Ala30insGluGlu	NC_000002.11:g.73613065_73613070dupGGAGGA,NC_000002.11:g.73613068_73613070dupGGA	-	C0268425 203800 Alstrom syndrome; CN169374 not specified
NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del)	7840	ALMS1	Benign;Likely benign	70965731	RCV000205134; RCV000173443;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN169374	2	73613068	73613070	NM_015120.4:c.75_77delGGA	NP_055935.4:p.Glu29del	NC_000002.11:g.73613068_73613070delGGA	-	C0268425 203800 Alstrom syndrome; CN169374 not specified
NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu)	7840	ALMS1	Benign;Likely benign;Uncertain significance	55889738	RCV000206303; RCV000029331; RCV000202933;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:CN169374	2	73613068	73613070	NM_015120.4:c.75_77dupGGA	NP_055935.4:p.Glu29_Ala30insGlu	NC_000002.11:g.73613065_73613070dupGGAGGA,NC_000002.11:g.73613068_73613070dupGGA	-	C0268425 203800 Alstrom syndrome; C0878544 Cardiomyopathy; CN169374 not specified
NM_015120.4(ALMS1):c.674C>A (p.Pro225His)	7840	ALMS1	Benign	11889925	RCV000205340;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73650009	73650009	NM_015120.4:c.674C>A	NP_055935.4:p.Pro225His	NC_000002.11:g.73650009C>A	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg)	7840	ALMS1	Uncertain significance	746923506	RCV000203691;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73651799	73651799	NM_015120.4:c.1009T>C	NP_055935.4:p.Cys337Arg	NC_000002.11:g.73651799T>C	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala)	7840	ALMS1	Benign	28730849	RCV000206034;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73651937	73651937	NM_015120.4:c.1147A>G	NP_055935.4:p.Thr383Ala	NC_000002.11:g.73651937A>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=)	7840	ALMS1	Benign	139512700	RCV000204223;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73651975	73651975	NM_015120.4:c.1185T>C	NP_055935.4:p.Tyr395=	NC_000002.11:g.73651975T>C	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.1577_1579delCTC (p.Pro526del)	7840	ALMS1	Benign;Likely benign	797045227	RCV000206500; RCV000194584;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN169374	2	73675228	73675230	NM_015120.4:c.1577_1579delCTC	NP_055935.4:p.Pro526del	NC_000002.11:g.73675228_73675230delCTC	-	C0268425 203800 Alstrom syndrome; CN169374 not specified
NM_015120.4(ALMS1):c.1577_1579dupCTC (p.Pro526_Leu527insPro)	7840	ALMS1	Benign	34628045	RCV000205185;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73675228	73675230	NM_015120.4:c.1577_1579dupCTC	NP_055935.4:p.Pro526_Leu527insPro	NC_000002.11:g.73675228_73675230dupCTC	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.1794_1801dupGGCTTTGA (p.Lys601Argfs)	7840	ALMS1	Pathogenic	398122991	RCV000210448; RCV000077806;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN221809	2	73675445	73675452	NM_015120.4:c.1794_1801dupGGCTTTGA	NP_055935.4:p.Lys601Argfs	NC_000002.11:g.73675445_73675452dupGGCTTTGA	-	C0268425 203800 Alstrom syndrome; CN221809 not provided
NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter)	7840	ALMS1	Pathogenic	398122995	RCV000210460; RCV000077846;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN221809	2	73675551	73675551	NM_015120.4:c.1900C>T	NP_055935.4:p.Gln634Ter	NC_000002.11:g.73675551C>T	-	C0268425 203800 Alstrom syndrome; CN221809 not provided
NM_015120.4(ALMS1):c.2141_2142delCT (p.Ser714Tyrfs)	7840	ALMS1	Pathogenic	387906313	RCV000004178;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73675792	73675793	NM_015120.4:c.2141_2142delCT	NP_055935.4:p.Ser714Tyrfs	NC_000002.11:g.73675792_73675793delCT	OMIM Allelic Variant:606844.0004	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.2322G>A (p.Leu774=)	7840	ALMS1	Benign	28730851	RCV000205021;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73675973	73675973	NM_015120.4:c.2322G>A	NP_055935.4:p.Leu774=	NC_000002.11:g.73675973G>A	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.2733C>T (p.His911=)	7840	ALMS1	Benign	189923349	RCV000205703;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73676384	73676384	NM_015120.4:c.2733C>T	NP_055935.4:p.His911=	NC_000002.11:g.73676384C>T	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter)	7840	ALMS1	Pathogenic	539612316	RCV000210366;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73676473	73676473	NM_015120.4:c.2822T>A	NP_055935.4:p.Leu941Ter	NC_000002.11:g.73676473T>A	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.4156dupA (p.Thr1386Asnfs)	7840	ALMS1	Pathogenic	797045228	RCV000194605;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73677807	73677807	NM_015120.4:c.4156dupA	NP_055935.4:p.Thr1386Asnfs	NC_000002.11:g.73677807dupA	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg)	7840	ALMS1	Benign	115517108	RCV000204914;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73677808	73677808	NM_015120.4:c.4157C>G	NP_055935.4:p.Thr1386Arg	NC_000002.11:g.73677808C>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.4296_4299delCACA (p.His1432Glnfs)	7840	ALMS1	Pathogenic	398122993	RCV000210469; RCV000077808;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN221809	2	73677947	73677950	NM_015120.4:c.4296_4299delCACA	NP_055935.4:p.His1432Glnfs	NC_000002.11:g.73677947_73677950delCACA	-	C0268425 203800 Alstrom syndrome; CN221809 not provided
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter)	7840	ALMS1	Likely pathogenic	772136379	RCV000192391;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73678796	73678796	NM_015120.4:c.5145T>G	NP_055935.4:p.Tyr1715Ter	NC_000002.11:g.73678796T>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=)	7840	ALMS1	Benign	75434052	RCV000206360;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73678823	73678823	NM_015120.4:c.5172A>G	NP_055935.4:p.Gln1724=	NC_000002.11:g.73678823A>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp)	7840	ALMS1	Likely benign	45608038	RCV000206180;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73679013	73679013	NM_015120.4:c.5362A>G	NP_055935.4:p.Asn1788Asp	NC_000002.11:g.73679013A>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.5926delG (p.Glu1976Serfs)	7840	ALMS1	Pathogenic	398122994	RCV000210449; RCV000077809;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN221809	2	73679577	73679577	NM_015120.4:c.5926delG	NP_055935.4:p.Glu1976Serfs	NC_000002.11:g.73679577delG	-	C0268425 203800 Alstrom syndrome; CN221809 not provided
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val)	7840	ALMS1	Benign	7587103	RCV000204263;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73679661	73679661	NM_015120.4:c.6010A>G	NP_055935.4:p.Ile2004Val	NC_000002.11:g.73679661A>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter)	7840	ALMS1	Pathogenic	770558150	RCV000194023;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73680087	73680087	NM_015120.4:c.6436C>T	NP_055935.4:p.Arg2146Ter	NC_000002.11:g.73680087C>T	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter)	7840	ALMS1	Pathogenic	193919340	RCV000004181;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73717247	73717247	NM_015120.4:c.8164C>T	NP_055935.4:p.Arg2722Ter	NC_000002.11:g.73717247C>T	OMIM Allelic Variant:606844.0007	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter)	7840	ALMS1	Pathogenic	193919338	RCV000004176;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73717466	73717466	NM_015120.4:c.8383C>T	NP_055935.4:p.Gln2795Ter	NC_000002.11:g.73717466C>T	OMIM Allelic Variant:606844.0002	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys)	7840	ALMS1	Benign	35062203	RCV000204119;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73717921	73717921	NM_015120.4:c.8838C>G	NP_055935.4:p.Asn2946Lys	NC_000002.11:g.73717921C>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu)	7840	ALMS1	Benign	34071195	RCV000205225;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73786188	73786188	NM_015120.4:c.10306A>G	NP_055935.4:p.Lys3436Glu	NC_000002.11:g.73786188A>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=)	7840	ALMS1	Benign	78108069	RCV000206343;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73786220	73786220	NM_015120.4:c.10338C>T	NP_055935.4:p.Pro3446=	NC_000002.11:g.73786220C>T	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter)	7840	ALMS1	Pathogenic	772624348	RCV000192879;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73799484	73799484	NM_015120.4:c.10483C>T	NP_055935.4:p.Gln3495Ter	NC_000002.11:g.73799484C>T	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser)	7840	ALMS1	Benign	45501594	RCV000204989;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73799632	73799632	NM_015120.4:c.10631C>G	NP_055935.4:p.Thr3544Ser	NC_000002.11:g.73799632C>G	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10775delC (p.Thr3592Lysfs)	7840	ALMS1	Pathogenic	387906312	RCV000004177;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73799776	73799776	NM_015120.4:c.10775delC	NP_055935.4:p.Thr3592Lysfs	NC_000002.11:g.73799776delC	OMIM Allelic Variant:606844.0003,OMIM Allelic Variant:606844.0005	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter)	7840	ALMS1	Pathogenic	397514576	RCV000032964;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73799946	73799946	NM_015120.4:c.10945G>T	NP_055935.4:p.Glu3649Ter	NC_000002.11:g.73799946G>T	OMIM Allelic Variant:606844.0009	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter)	7840	ALMS1	Pathogenic	193919339	RCV000004180;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73799993	73799993	NM_015120.4:c.10992G>A	NP_055935.4:p.Trp3664Ter	NC_000002.11:g.73799993G>A	OMIM Allelic Variant:606844.0006	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.11116_11134del19 (p.Arg3706Leufs)	7840	ALMS1	Pathogenic	398122992	RCV000210462; RCV000077807;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009; MedGen:CN221809	2	73800117	73800135	NM_015120.4:c.11116_11134del19	NP_055935.4:p.Arg3706Leufs	NC_000002.11:g.73800117_73800135del19	-	C0268425 203800 Alstrom syndrome; CN221809 not provided
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser)	7840	ALMS1	Benign	34927702	RCV000206658;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73800270	73800270	NM_015120.4:c.11269G>A	NP_055935.4:p.Gly3757Ser	NC_000002.11:g.73800270G>A	-	C0268425 203800 Alstrom syndrome
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=)	7840	ALMS1	Benign	35760114	RCV000203921;	N	MedGen:C0268425,OMIM:203800,ORPHA:64,SNOMED CT:63702009	2	73800527	73800527	NM_015120.4:c.11526G>A	NP_055935.4:p.Glu3842=	NC_000002.11:g.73800527G>A	-	C0268425 203800 Alstrom syndrome